Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.701 0.310 9.3E-14
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.536 0.690 2.8E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
propionyl-CoA carboxylase subunit alpha 0.672 0.448 4.3E-15
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
propionyl-CoA carboxylase subunit beta 0.672 0.448 1.7E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
phosphofructokinase, muscle 0.690 0.448 4.3E-17
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.627 0.448 5.1E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5836
Gene Symbol: PYGL
PYGL
glycogen phosphorylase L 0.735 0.276 1.2E-16
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
glycogen phosphorylase, muscle associated 0.707 0.414 1.5E-13
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.707 0.414 1.3E-04
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
neuraminidase 1 0.533 0.621 3.6E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.633 0.552 4.8E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 3373
Gene Symbol: HYAL1
HYAL1
hyaluronoglucosaminidase 1 0.648 0.483 1.7E-04
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.616 0.655 0.94
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
iduronidase, alpha-L- 0.558 0.724 7.1E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
lipase A, lysosomal acid type 0.609 0.448 3.9E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.656 0.517 2.7E-22
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
mannosidase beta 0.707 0.483 2.8E-18
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.493 0.724 2.6E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.510 0.655 1.8E-14
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.621 0.448 1.7E-11
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
solute carrier family 22 member 5 0.663 0.552 1.5E-15
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.543 0.655 0.72
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.685 0.448 1.8E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 limited 0 0